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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin, Norine; Schnur, Rhonda E; Douzgou, Sofia; Hiatt, Susan M; Rustad, Cecilie F; Brown, Natasha J; Earl, Dawn L; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A; Hancárová, Miroslava; Amor, David J; Bebin, E Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkölbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Øystein L; Hurst, Anna C E; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Séverine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalová, Darina; Rhodes, Lindsay; Sanders, Victoria R; Sedlácek, Zdenek; Seebacher, Heidelis A.
Afiliação
  • Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.
  • Schnur RE; GeneDx, Gaithersburg, MD 20877, USA; Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA.
  • Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9N
  • Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.
  • Brown NJ; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australi
  • Earl DL; Seattle Children's, Seattle, WA 98105, USA.
  • Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.
  • Levchenko O; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Geuer S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.
  • Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.
  • Johnson D; Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK.
  • Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.
  • Hancárová M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.
  • Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.
  • Brusco A; Department of Medical Sciences, University of Torino, Torino 10126, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy.
  • Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.
  • Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Genetics Department, Lyon University Hospital, Lyon 69007, France.
  • Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.
  • Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Delafontaine J; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
  • Del Giudice E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy.
  • Doco M; Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France.
  • Douglas G; GeneDx, Gaithersburg, MD 20877, USA.
  • Eisenkölbl A; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria.
  • Funari T; GeneDx, Gaithersburg, MD 20877, USA.
  • Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.
  • Gruber-Sedlmayr U; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.
  • Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland.
  • Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.
  • Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
  • Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
  • Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
  • Kronn D; New York Medical College, Valhalla, NY 10595, USA.
  • Lavrov A; Research Centre for Medical Genetics, Moscow 115522, Russia.
  • Lee C; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia.
  • Lorrain S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland.
  • Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway.
  • Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.
  • Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA.
  • Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy.
  • Prchalová D; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Rhodes L; GeneDx, Gaithersburg, MD 20877, USA.
  • Sanders VR; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Sedlácek Z; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
  • Seebacher HA; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.
Am J Hum Genet ; 108(5): 857-873, 2021 05 06.
Article em En | MEDLINE | ID: mdl-33961779
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Encefalopatias / Proteínas Nucleares / Mutação de Sentido Incorreto / Epilepsia / Rim Fundido / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Encefalopatias / Proteínas Nucleares / Mutação de Sentido Incorreto / Epilepsia / Rim Fundido / Deficiência Intelectual Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça